21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel …
R Wang, Y Yu, J Ye, L Han, W Qiu, H Zhang, L Liang… - Steroids, 2016 - Elsevier
Abstract Steroid 21-hydroxylase deficiency (21-OHD) caused by the CYP21A2 gene
mutations accounts for more than 90% of congenital adrenal hyperplasia (CAH) cases. In …
mutations accounts for more than 90% of congenital adrenal hyperplasia (CAH) cases. In …
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency
Y Yu, J Wang, X Huang, Y Wang, P Yang… - Genetic testing and …, 2011 - liebertpub.com
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly
caused by a defect in the steroid 21-hydroxylase gene (CYP21A2). In this study, we …
caused by a defect in the steroid 21-hydroxylase gene (CYP21A2). In this study, we …
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients
AOK Chan, WM But, KL Ng, LM Wong, YY Lam, SC Tiu… - Steroids, 2011 - Elsevier
BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase
deficiency (21OHD) is an autosomal recessive disorder due to mutation in the CYP21A2 …
deficiency (21OHD) is an autosomal recessive disorder due to mutation in the CYP21A2 …
Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency
D Ma, Y Chen, Y Sun, B Yang, J Cheng, M Huang… - Clinical …, 2014 - Elsevier
Abstract Objective 21-Hydroxylase deficiency (21-OHD) is the most common cause of
congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving …
congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving …
Three novel mutations in Japanese patients with 21-hydroxylase deficiency
T Usui, K Nishisho, M Kaji, N Ikuno, T Yorifuji… - Hormone …, 2004 - karger.com
Objective: This study analyzed the mutation of 21-hydroxylase deficiency (21-OHD) in 36
unrelated Japanese patients with congenital adrenal hyperplasia (CAH). Methods: All the …
unrelated Japanese patients with congenital adrenal hyperplasia (CAH). Methods: All the …
Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations
S Nimkarn, BI Cerame, JQ Wei, M Dumic… - The Journal of …, 1999 - academic.oup.com
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is the
most common inherited defect of adrenal steroid biosynthesis. At least 36 mutations in the …
most common inherited defect of adrenal steroid biosynthesis. At least 36 mutations in the …
Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese
HH Lee, JM Kuo, HT Chao, YJ Lee… - The Journal of …, 2000 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly
caused by defects in the steroid 21-hydroxylase (CYP21) gene. We screened 1,000 healthy …
caused by defects in the steroid 21-hydroxylase (CYP21) gene. We screened 1,000 healthy …
Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia
P Balraj, PG Lim, H Sidek, LL Wu, ASB Khoo - Journal of endocrinological …, 2013 - Springer
Background and aim: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase
deficiency (21-OHD) is a common autosomal recessive disorder. Our objective was to …
deficiency (21-OHD) is a common autosomal recessive disorder. Our objective was to …
Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency
Steroid 21-hydroxylase deficiency is caused by inactivating mutations in the CYP21A2 gene.
This paper reports on the mutation spectrum and the genotype-phenotype correlation of 21 …
This paper reports on the mutation spectrum and the genotype-phenotype correlation of 21 …
[PDF][PDF] CYP21A2 gene mutations in congenital adrenal Hyperplasia: genotype− phenotype correlation in Turkish children
F Baş, H Kayserili, F Darendeliler… - Journal of clinical …, 2009 - jag.journalagent.com
Background: Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21-
OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 …
OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 …